Barbara K Burton

  • 6661 Citations
1973 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2020

Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA

Lawrence, R., Prill, H., Vachali, P. P., Adintori, E. G., de Hart, G., Wang, R. Y., Burton, B. K., Pasquali, M. & Crawford, B. E., Jul 20 2020, In : Glycobiology. 30, 7, p. 433-445 13 p.

Research output: Contribution to journalArticle

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Burton, B. K., Charrow, J., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hitchins, L., Hickey, R., Christensen, K. M., Groepper, D., Shryock, H., Smith, P., Shao, R. & Basheeruddin, K., 2020, In : International Journal of Neonatal Screening. 6, 1, ijns6010004.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

on behalf of the PAL-002 and PAL-004 Investigators, 2020, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access
2019

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Longo, N., Dimmock, D., Levy, H., Viau, K., Bausell, H., Bilder, D. A., Burton, B., Gross, C., Northrup, H., Rohr, F., Sacharow, S., Sanchez-Valle, A., Stuy, M., Thomas, J., Vockley, J., Zori, R. & Harding, C. O., Aug 1 2019, In : Genetics in Medicine. 21, 8, p. 1851-1867 17 p.

Research output: Contribution to journalArticle

11 Scopus citations

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

Research output: Contribution to journalArticle

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

Zori, R., Ahring, K., Burton, B., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Sep 1 2019, In : Molecular Genetics and Metabolism. 128, 1-2, p. 92-101 10 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

Burton, B. K., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hickey, R., Hitchins, L., Groepper, D., Christensen, K. M., Kirby, A., Moody, C., Shryock, H., Ashbaugh, L., Shao, R. & Basheeruddin, K., Nov 2019, In : Journal of Pediatrics. 214, p. 165-167.e1

Research output: Contribution to journalArticle

4 Scopus citations

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Vockley, J., Burton, B., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Bowden, A., Chen, W., Chen, C. Y., Cataldo, J., Marsden, D. & Kakkis, E., Jan 2019, In : Journal of inherited metabolic disease. 42, 1, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 601-607 7 p.

Research output: Contribution to journalArticle

6 Scopus citations
2018

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F. J., Hughes, D. A., Matousek, R., Hawley, S. M., Decker, C. & Harmatz, P. R., Feb 2018, In : Molecular Genetics and Metabolism. 123, 2, p. 127-134 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: Combined phase 2 outcomes through PAL-003 extension study

Longo, N., Zori, R., Wasserstein, M. P., Vockley, J., Burton, B. K., Decker, C., Li, M., Lau, K., Jiang, J., Larimore, K. & Thomas, J. A., Jul 4 2018, In : Orphanet journal of rare diseases. 13, 1, 108.

Research output: Contribution to journalArticle

8 Scopus citations

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial

PRISM-2 Investigators, May 1 2018, In : Molecular Genetics and Metabolism. 124, 1, p. 20-26 7 p.

Research output: Contribution to journalArticle

22 Scopus citations

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

Burton, B. K., Jones, K. B., Cederbaum, S., Rohr, F., Waisbren, S., Irwin, D. E., Kim, G., Lilienstein, J., Alvarez, I., Jurecki, E. & Levy, H., Nov 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 228-234 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Vockley, J., Burton, B. K., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Bowden, A., Chen, W., Chen, C. Y., Cataldo, J., Marsden, D. & Kakkis, E., Jul 9 2018, (Accepted/In press) In : Journal of inherited metabolic disease. p. 1-8 8 p.

Research output: Contribution to journalArticle

2 Scopus citations
2017

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., Feb 1 2017, In : American Journal of Medical Genetics, Part A. 173, 2, p. 375-383 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Burton, B. K., Charrow, J., Hoganson, G. E., Waggoner, D., Tinkle, B., Braddock, S. R., Schneider, M., Grange, D. K., Nash, C., Shryock, H., Barnett, R., Shao, R., Basheeruddin, K. & Dizikes, G., Nov 2017, In : Journal of Pediatrics. 190, p. 130-135 6 p.

Research output: Contribution to journalArticle

56 Scopus citations

Progression of liver disease in children and adults with lysosomal acid lipase deficiency

Burton, B. K., Silliman, N. & Marulkar, S., Jul 3 2017, In : Current Medical Research and Opinion. 33, 7, p. 1211-1214 4 p.

Research output: Contribution to journalArticle

5 Scopus citations

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Burton, B. K., Jego, V., Mikl, J. & Jones, S. A., Nov 1 2017, In : Journal of inherited metabolic disease. 40, 6, p. 867-874 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease

Burton, B. K., Kronn, D. F., Hwu, W. L. & Kishnani, P. S., Jul 2017, In : Pediatrics. 140, e20160280D.

Research output: Contribution to journalArticle

11 Scopus citations

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

Vockley, J., Burton, B., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Humphrey, R., Mayhew, J., Bowden, A., Zhang, L., Cataldo, J., Marsden, D. L. & Kakkis, E., Apr 1 2017, In : Molecular Genetics and Metabolism. 120, 4, p. 370-377 8 p.

Research output: Contribution to journalArticle

19 Scopus citations
2016

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C. & 62 others, Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Bacino, A., Lee, B. H., Balasubramanyam, A., Burrage, L. C., Clark, G. D., Craigen, W. J., Dhar, S. U., Emrick, L. T. & 180 others, Graham, B. H., Jain, M., Lalani, S. R., Lewis, R. A., Moretti, P. M., Nicholas, S. K., Orange, J. S., Posey, J. E., Potocki, L., Rosenfeld, J. A., Scott, D. A., Hanchard, N. A., Alyssa, T. A., Mercedes, A. E., Mashid, A. S., Bellen, H. J., Yamamoto, S., Wangler, M. F., Westerfield, M., Postlethwait, J. H., Eng, C. M., Yang, Y., Muzny, D. M., Ward, P. A., Ramoni, R. B., McCray, A. T., Kohane, I. S., Holm, I. A., Might, M., Mazur, P., Splinter, K., Esteves, C., Shashi, V., Jiang, Y. H., Pena, L. D. M., McConkie-Rosell, A., Schoch, K., Spillmann, R. C., Sullivan, J. A., Walley, N. M., Goldstein, D. B., Stong, N., Beggs, A. H., Loscalzo, J., MacRae, C. A., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Maas, R. L., Krier, J. B., Rodan, L. H., Walsh, C. A., Cooper, C. M., Pallais, J. C., Donnell-Fink, L. A., Krieg, E. L., Lincoln, S. A., Briere, L. C., Jacob, H. J., Worthey, E. A., Lazar, J., Strong, K. A., Handley, L. H., Newberry, J. S., Bick, D. P., Schroeder, M. C., Brown, D. M., Birch, C. L., Levy, S. E., Boone, B. E., Dorset, D. C., Jones, A. L., Manolio, T. A., Mulvihill, J. J., Wise, A. L., Dayal, J. G., Eckstein, D. J., Krasnewich, D. M., Loomis, C. R., Mamounas, L. A., Iglesias, B., Martin, C., Koeller, D. M., Metz, T. O., Ashley, E. A., Fisher, P. G., Bernstein, J. A., Wheeler, M. T., Zornio, P. A., Waggott, D. M., Dries, A. M., Kohler, J. N., Dipple, K. M., Nelson, S. F., Palmer, C. G. S., Vilain, E., Allard, P., Dell Angelica, E. C., Lee, H., Sinsheimer, J. S., Papp, J. C., Dorrani, N., Herzog, M. R., Barseghyan, H., Adams, D. R., Adams, C. J., Burke, E. A., Chao, K. R., Davids, M., Draper, D. D., Estwick, T., Frisby, T. S., Frost, K., Gahl, W. A., Gartner, V., Godfrey, R. A., Goheen, M., Golas, G. A., Gordon, M. G., Groden, C. A., Gropman, A. L., Hackbarth, M. E., Hardee, I., Johnston, J. M., Koehler, A. E., Latham, L., Latour, Y. L., Lau, C. Y. C., Lee, P. R., Levy, D. J., Liebendorder, A. P., Macnamara, E. F., Maduro, V. V., Malicdan, M. V., Markello, T. C., McCarty, A. J., Murphy, J. L., Nehrebecky, M. E., Novacic, D., Pusey, B. N., Sadozai, S., Schaffer, K. E., Sharma, P., Soldatos, A. G., Thomas, S. P., Tifft, C. J., Tolman, N. J., Toro, C., Valivullah, Z. M., Wahl, C. E., Warburton, M., Weech, A. A., Wolfe, L. A., Yu, G., Hamid, R., Newman, J. H., Phillips, J. A., Cogan, J. D., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Oct 6 2016, In : American journal of human genetics. 99, 4, p. 991-999 9 p.

Research output: Contribution to journalArticle

22 Scopus citations

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Hendriksz, C. J., Berger, K. I., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Matousek, R., Jurecki, E., Decker, C. & Harmatz, P. R., Nov 1 2016, In : Journal of inherited metabolic disease. 39, 6, p. 839-847 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis

Opladen, T., Lindner, M., Das, A. M., Marquardt, T., Khan, A., Emre, S. H., Burton, B. K., Barshop, B. A., Böhm, T., Meyburg, J., Zangerl, K., Mayorandan, S., Burgard, P., Dürr, U. H. N., Rosenkranz, B., Rennecke, J., Derbinski, J., Yudkoff, M. & Hoffmann, G. F., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 19-26 8 p.

Research output: Contribution to journalArticle

4 Scopus citations

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Solano Villarreal, M. L., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Berger, K. I., Slasor, P., Matousek, R., Jurecki, E., Shaywitz, A. J. & Harmatz, P. R., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 131-143 13 p.

Research output: Contribution to journalArticle

26 Scopus citations

Pregnancy in patients with mucopolysaccharidosis: A case series

Stewart, F. J., Bentley, A., Burton, B. K., Guffon, N., Hale, S. L., Harmatz, P. R., Kircher, S. G., Kochhar, P. K., Mitchell, J. J., Plöckinger, U., Graham, S., Sande, S., Sisic, Z. & Johnston, T. A., Sep 1 2016, In : Molecular Genetics and Metabolism Reports. 8, p. 111-115 5 p.

Research output: Contribution to journalArticle

7 Scopus citations
2015

A cerebrospinal fluid collection study in pediatric and adult patients with hunter syndrome

Hendriksz, C. J., Muenzer, J., Burton, B. K., Pan, L., Wang, N., Naimy, H., Pano, A. & Barbier, A. J., Dec 1 2015, In : Journal of Inborn Errors of Metabolism and Screening. 2015, January-December, p. 1-5 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency

Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Grande, C. C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., Ezgu, F., Ficicioglu, C., Furuya, K. N., Kane, J., Laukaitis, C., Mengel, E., Neilan, E. G., Nightingale, S. & 11 others, Peters, H., Scarpa, M., Schwab, K. O., Smolka, V., Valayannopoulos, V., Wood, M., Goodman, Z., Yang, Y., Eckert, S., Rojas-Caro, S. & Quinn, A. G., Sep 10 2015, In : New England Journal of Medicine. 373, 11, p. 1010-1020 11 p.

Research output: Contribution to journalArticle

124 Scopus citations

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

Burton, B., Grant, M., Feigenbaum, A., Singh, R., Hendren, R., Siriwardena, K., Phillips, J., Sanchez-Valle, A., Waisbren, S., Gillis, J., Prasad, S., Merilainen, M., Lang, W., Zhang, C., Yu, S. & Stahl, S., Mar 1 2015, In : Molecular Genetics and Metabolism. 114, 3, p. 415-424 10 p.

Research output: Contribution to journalArticle

21 Scopus citations

Clinical Features of Lysosomal Acid Lipase Deficiency

Burton, B. K., Deegan, P. B., Enns, G. M., Guardamagna, O., Horslen, S., Hovingh, G. K., Lobritto, S. J., Malinova, V., McLin, V. A., Raiman, J., Di Rocco, M., Santra, S., Sharma, R., Sykut-Cegielska, J., Whitley, C. B., Eckert, S., Valayannopoulos, V. & Quinn, A. G., Dec 1 2015, In : Journal of pediatric gastroenterology and nutrition. 61, 6, p. 619-625 7 p.

Research output: Contribution to journalArticle

55 Scopus citations

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, C. J., Muenzer, J., Vanderver, A., Davis, J. M., Burton, B. K., Mendelsohn, N. J., Wang, N., Pan, L., Pano, A. & Barbier, A. J., Dec 1 2015, In : Molecular Genetics and Metabolism Reports. 5, p. 103-106 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S. P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P. & Decker, C., Feb 1 2015, In : Molecular Genetics and Metabolism. 114, 2, p. 186-194 9 p.

Research output: Contribution to journalArticle

22 Scopus citations

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: A two-year analysis of safety and efficacy

Longo, N., Siriwardena, K., Feigenbaum, A., Dimmock, D., Burton, B. K., Stockler, S., Waisbren, S., Lang, W., Jurecki, E., Zhang, C. & Prasad, S., May 8 2015, In : Genetics in Medicine. 17, 5, p. 365-373 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

STRIVE Investigators, Feb 1 2015, In : Molecular Genetics and Metabolism. 114, 2, p. 178-185 8 p.

Research output: Contribution to journalArticle

45 Scopus citations

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American journal of human genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

87 Scopus citations

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study

Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., Oct 1 2015, In : American Journal of Medical Genetics, Part A. 167, 10, p. 2272-2281 10 p.

Research output: Contribution to journalArticle

23 Scopus citations
4 Scopus citations
2014

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Hendriksz, C. J., Burton, B., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S. P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., Slasor, P., Lounsbury, D. & Dummer, W., Oct 23 2014, In : Journal of inherited metabolic disease. 37, 6, p. 979-990 12 p.

Research output: Contribution to journalArticle

112 Scopus citations

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

Jorgez, C. J., Rosenfeld, J. A., Wilken, N. R., Vangapandu, H. V., Sahin, A., Pham, D., Carvalho, C. M. B., Bandholz, A., Miller, A., Weaver, D. D., Burton, B., Babu, D., Bamforth, J. S., Wilks, T., Flynn, D. P., Roeder, E., Patel, A., Cheung, S. W., Lupski, J. R. & Lamb, D. J., Sep 2014, In : PloS one. 9, 9, e107028.

Research output: Contribution to journalArticle

19 Scopus citations
2 Scopus citations

Liver transplantation for pediatric metabolic disease

Mazariegos, G., Shneider, B., Burton, B., Fox, I. J., Hadzic, N., Kishnani, P., Morton, D. H., Mcintire, S., Sokol, R. J., Summar, M., White, D., Chavanon, V. & Vockley, J., Apr 2014, In : Molecular Genetics and Metabolism. 111, 4, p. 418-427 10 p.

Research output: Contribution to journalArticle

47 Scopus citations

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

Lampe, C., Bosserhoff, A. K., Burton, B. K., Giugliani, R., de Souza, C. F., Bittar, C., Muschol, N., Olson, R. & Mendelsohn, N. J., Sep 1 2014, In : Journal of inherited metabolic disease. 37, 5, p. 823-829 7 p.

Research output: Contribution to journalArticle

22 Scopus citations

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose

Lachman, R. S., Burton, B. K., Clarke, L. A., Hoffinger, S., Ikegawa, S., Jin, D. K., Kano, H., Kim, O. H., Lampe, C., Mendelsohn, N. J., Shediac, R., Tanpaiboon, P. & White, K. K., Mar 1 2014, In : Skeletal Radiology. 43, 3, p. 359-369 11 p.

Research output: Contribution to journalArticle

24 Scopus citations

Phenylalanine hydroxylase deficiency: Diagnosis and management guideline

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Jan 1 2014, In : Genetics in Medicine. 16, 2, p. 188-200 13 p.

Research output: Contribution to journalArticle

219 Scopus citations

Phenylketonuria scientific review conference: State of the science and future research needs

Camp, K. M., Parisi, M. A., Acosta, P. B., Berry, G. T., Bilder, D. A., Blau, N., Bodamer, O. A., Brosco, J. P., Brown, C. S., Burlina, A. B., Burton, B. K., Chang, C. S., Coates, P. M., Cunningham, A. C., Dobrowolski, S. F., Ferguson, J. H., Franklin, T. D., Frazier, D. M., Grange, D. K., Greene, C. L. & 42 others, Groft, S. C., Harding, C. O., Howell, R. R., Huntington, K. L., Hyatt-Knorr, H. D., Jevaji, I. P., Levy, H. L., Lichter-Konecki, U., Lindegren, M. L., Lloyd-Puryear, M. A., Matalon, K., MacDonald, A., McPheeters, M. L., Mitchell, J. J., Mofidi, S., Moseley, K. D., Mueller, C. M., Mulberg, A. E., Nerurkar, L. S., Ogata, B. N., Pariser, A. R., Prasad, S., Pridjian, G., Rasmussen, S. A., Reddy, U. M., Rohr, F. J., Singh, R. H., Sirrs, S. M., Stremer, S. E., Tagle, D. A., Thompson, S. M., Urv, T. K., Utz, J. R., van Spronsen, F., Vockley, J., Waisbren, S. E., Weglicki, L. S., White, D. A., Whitley, C. B., Wilfond, B. S., Yannicelli, S. & Young, J. M., Jun 2014, In : Molecular Genetics and Metabolism. 112, 2, p. 87-122 36 p.

Research output: Contribution to journalArticle

117 Scopus citations

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

Grange, D. K., Hillman, R. E., Burton, B. K., Yano, S., Vockley, J., Fong, C. T., Hunt, J., Mahoney, J. J. & Cohen-Pfeffer, J. L., May 2014, In : Molecular Genetics and Metabolism. 112, 1, p. 9-16 8 p.

Research output: Contribution to journalArticle

21 Scopus citations

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: An open-label, multicentre, phase 1 dose-escalation trial

Longo, N., Harding, C. O., Burton, B. K., Grange, D. K., Vockley, J., Wasserstein, M., Rice, G. M., Dorenbaum, A., Neuenburg, J. K., Musson, D. G., Gu, Z. & Sile, S., Jan 1 2014, In : The Lancet. 384, 9937, p. 37-44 8 p.

Research output: Contribution to journalArticle

80 Scopus citations

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Adams, D. R., Yuan, H., Holyoak, T., Arajs, K. H., Hakimi, P., Markello, T. C., Wolfe, L. A., Vilboux, T., Burton, B. K., Fajardo, K. F., Grahame, G., Holloman, C., Sincan, M., Smith, A. C. M., Wells, G. A., Huang, Y., Vega, H., Snyder, J. P., Golas, G. A., Tifft, C. J. & 5 others, Boerkoel, C. F., Hanson, R. W., Traynelis, S. F., Kerr, D. S. & Gahl, W. A., Nov 1 2014, In : Molecular Genetics and Metabolism. 113, 3, p. 161-170 10 p.

Research output: Contribution to journalArticle

29 Scopus citations
2013

A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics

Burton, B. K., Leviton, L., Vespa, H., Coon, H., Longo, N., Lundy, B. D., Johnson, M., Angelino, A., Hamosh, A. & Bilder, D., Jan 1 2013, In : Molecular Genetics and Metabolism. 108, 1, p. 8-12 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

CDKL5 and ARX mutations in males with early-onset epilepsy

Mirzaa, G. M., Paciorkowski, A. R., Marsh, E. D., Berry-Kravis, E. M., Medne, L., Alkhateeb, A., Grix, A., Wirrell, E. C., Powell, B. R., Nickels, K. C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W. B. & Das, S., Jan 1 2013, In : Pediatric neurology. 48, 5, p. 367-377 11 p.

Research output: Contribution to journalArticle

28 Scopus citations